يعرض 1 - 10 نتائج من 900 نتيجة بحث عن '"fgfr2"', وقت الاستعلام: 0.77s تنقيح النتائج
  1. 1
    دورية أكاديمية
  2. 2
    دورية أكاديمية
  3. 3
    دورية أكاديمية
  4. 4
    دورية أكاديمية
  5. 5
    رسالة جامعية

    المؤلفون: Velasco Sánchez, Ana

    المساهمون: University/Department: Universitat de Lleida. Departament de Ciències Mèdiques Bàsiques

    مرشدي الرسالة: Matias-Guiu, Xavier, Dolcet Roca, Xavier

    المصدر: TDX (Tesis Doctorals en Xarxa)

    وصف الملف: application/pdf

  6. 6
    دورية أكاديمية
  7. 7
    دورية أكاديمية
  8. 8
    دورية أكاديمية
  9. 9
    دورية أكاديمية

    المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 1 (2024); 78-85 ; Российский вестник перинатологии и педиатрии; Том 69, № 1 (2024); 78-85 ; 2500-2228 ; 1027-4065

    وصف الملف: application/pdf

    العلاقة: https://www.ped-perinatology.ru/jour/article/view/1942/1462Test; Sawh-Martinez R., Steinbacher D.M. Syndromic Craniosynostosis. Clin Plast Surg 2019; 46(2): 141–155. DOI:10.1016/j.cps.2018.11.009; Conrady C.D., Patel B.C. Crouzon Syndrome. StatPearls Publishing; 2023 Aug; PMID: 30085540. https://www.ncbi.nlm.nih.gov/books/NBK518998Test / Ссылка активна на 12. 12. 2023.; Кулаков А.А. Челюстно-лицевая хирургия. Под ред. А.А. Кулакова. Москва: ГЭОТАР-Медиа, 2019; 692 с.; Cunningham M.L., Seto M.L., Ratisoontorn C., Heike C.L., Hing A.V. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res 2007; 10(2): 67–81. DOI:10.1111/j.1601–6343.2007.00389.x; Pal U.S., Gupta C., Chellappa A.A. Crouzon syndrome with primary optic nerve atrophy and normal brain functions : A case report. J Oral Biol Craniofac Res 2012; 2(2): 116–118. DOI:10.1016/j.jobcr.2012.03.011; Reardon W., Winter R.M., Rutland P., Pulleyn L.J., Jones B.M., Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8(1): 98–103.; Di Rocco F., Collet C., Legeai-Mallet L., Arnaud E., Le Merrer M., Hadj-Rabia S., Renier D. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst 2011; 27(3): 349–354. DOI:10.1007/s00381–010–1347-z; Mathijssen I.M. Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis. J Craniofac Surg 2015; 26(6): 1735–1807. URL: https://www.researchgate.net/publication/281682735_Guideline_for_Care_of_Patients_With_the_Diagnoses_of_Craniosynostosis_Working_Group_on_CraniosynostosisTest; Kim H.J., Roh H.G., Lee I.W. Craniosynostosis: Updates in Radiologic Diagnosis. J Korean Neurosurg Soc 2016; 59(3): 219–226. DOI:10.3340/jkns.2016.59.3.219; Ciurea AV, Toader C. Genetics of craniosynostosis : review of the literature. J Med Life 2009; 2(1): 5–17.; Vargervik K., Rubin M.S., Grayson B.H., Figueroa A.A., Kreiborg S., Shirley J.C. et al. Parameters of care for craniosynostosis: dental and orthodontic perspectives. Am J Orthod Dentofacial Orthop 2012; 141(4 Suppl): S68–73. DOI:10.1016/j.ajodo.2011.12.013; Raybaud C., Di Rocco C. Brain malformation in syndromic craniosynostoses, a primary disorder of white matter : a review. Childs Nerv Syst 2007; 23(12): 1379–1388. DOI:10.1007/s00381–007–0474–7; Conrady C.D., Patel B.C., Sharma S. Apert Syndrome. Stat-Pearls Publishing; 2023 Jan; PMID: 30085535. https://pubmed.ncbi.nlm.nih.gov/30085535Test / Ссылка активна на 12. 12. 2023.; Wilkie A.O., Slaney S.F., Oldridge M., Poole M.D., Ashworth G.J., Hockley A.D. et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9(2): 165–172.; Fearon J.A. Treatment of the hands and feet in Apert syndrome: an evolution in management. Plast Reconstr Surg 2003; 112(1): 1–12. URL: https://www.researchgate.net/publication/10685177_Treatment_of_the_Hands_and_Feet_in_Apert_Syndrome_An_Evolution_in_ManagementTest; Betances E.M., Mendez M.D., Das J. Craniosynostosis. Stat-Pearls Publishing 2023; PMID: 31335086. https://pubmed.ncbi.nlm.nih.gov/31335086Test / Ссылка активна на 12.12.2023.; Kalathia M.B., Parikh Y.N., Dhami M.D., Hapani P.T. Pfeiffer syndrome. J Pediatr Neurosci 2014; 9(1): 85–86. URL: https://www.researchgate.net/publication/262816749_Pfeiffer_syndromeTest; Клинические рекомендации ассоциации генетиков и неврологов 2017 «Диагностика и лечение синдрома Пфайффера». https://med-gen.ru/docs/pfayfer.pdfTest / Ссылка активна на 12. 12. 2023.; Taylor J.A., Bartlett S.P. What’s New in Syndromic Craniosynostosis Surgery? Plast Reconstr Surg 2017; 140(1): 82e–93e. URL: https://www.researchgate.net/publication/318163206_WhatTest's_New_in_Syndromic_Craniosynostosis_Surgery; Azoury S.C., Reddy S., Shukla V., Deng C.X. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci 2017; 13(12): 1479–1488. DOI:10.7150/ijbs.22373; Graul-Neumann L.M., Klopocki E., Adolphs N., Mensah M.A., Kress W. Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. Mol Syndromol 2017; 8(2): 93–97. DOI:10.1159/000455028; Kutkowska-Kaźmierczak A., Gos M., Obersztyn E. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. J Appl Genet 2018; 59(2) :133–147. DOI:10.1007/s13353–017–0423–4; Snyder-Warwick A.K., Perlyn C.A., Pan J., Yu K., Zhang L., Ornitz D.M. Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. Proc Natl Acad Sci USA 2010; 107(6): 2515–20. DOI:10.1073/pnas.0913985107; Carter E.P., Fearon A.E., Grose R.P. Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction. Trends Cell Biol 2015; 25(4): 221–233. DOI:10.1016/j.tcb.2014.11.003; Kapp-Simon K.A., Speltz M.L., Cunningham M.L., Patel P.K., Tomita T. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst 2007; 23(3): 269–281. DOI:10.1007/s00381–006–0251-z; https://www.ped-perinatology.ru/jour/article/view/1942Test

  10. 10
    دورية أكاديمية